A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537498



Internal ID15503192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:188205927..188407553hg38UCSC Ensembl
Innerchr3:187923715..188125341hg19UCSC Ensembl
Innerchr3:189406409..189608035hg18UCSC Ensembl
Innerchr3:189406417..189608043hg17UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38201627
hg19201627
hg18201627
hg17201627
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461046
Supporting Variants
Samples1780862101_A
Known GenesLPP
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv537498
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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